Canonical Allele Identifier: CA1721857
Community Standard Title: NM_004082.5(DCTN1):c.2389T>C (p.Phe797Leu)
Gene: DCTN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.74366860A>G , CM000664.2:g.74366860A>G GRCh38
NC_000002.11:g.74593987A>G , CM000664.1:g.74593987A>G GRCh37
NC_000002.10:g.74447495A>G NCBI36
NG_008735.2:g.30228T>C

Transcript Alleles

HGVS Amino-acid Change
NM_004082.5:c.2389T>C MANE Select NP_004073.2:p.Phe797Leu
ENST00000628224.3:c.2389T>C MANE Select ENSP00000487279.2:p.Phe797Leu
NM_001135040.2:c.2329T>C NP_001128512.1:p.Phe777Leu
NM_001135040.3:c.2329T>C NP_001128512.1:p.Phe777Leu
NM_001135041.2:c.1987T>C NP_001128513.1:p.Phe663Leu
NM_001135041.3:c.1987T>C NP_001128513.1:p.Phe663Leu
NM_001190836.1:c.2278T>C NP_001177765.1:p.Phe760Leu
NM_001190836.2:c.2278T>C NP_001177765.1:p.Phe760Leu
NM_001190837.1:c.2368T>C NP_001177766.1:p.Phe790Leu
NM_001190837.2:c.2368T>C NP_001177766.1:p.Phe790Leu
NM_001378991.1:c.2338T>C NP_001365920.1:p.Phe780Leu
NM_001378992.1:c.2320T>C NP_001365921.1:p.Phe774Leu
NM_004082.4:c.2389T>C NP_004073.2:p.Phe797Leu
NM_023019.3:c.1987T>C NP_075408.1:p.Phe663Leu
NM_023019.4:c.1987T>C NP_075408.1:p.Phe663Leu
NR_033935.1:n.2590T>C
NR_033935.2:n.2369T>C
ENST00000361874.7:c.2389T>C ENSP00000354791.3:p.Phe797Leu
ENST00000361874.8:c.2389T>C ENSP00000354791.4:p.Phe797Leu
ENST00000394003.7:c.2368T>C ENSP00000377571.3:p.Phe790Leu
ENST00000409240.5:c.2278T>C ENSP00000386406.1:p.Phe760Leu
ENST00000409438.5:c.1987T>C ENSP00000387270.1:p.Phe663Leu
ENST00000409567.7:c.2329T>C ENSP00000386843.3:p.Phe777Leu
ENST00000409868.5:c.2338T>C ENSP00000387327.1:p.Phe780Leu
ENST00000434055.5:c.2278T>C ENSP00000416711.1:p.Phe760Leu
ENST00000466110.5:n.3206T>C
ENST00000495643.1:n.417T>C
ENST00000497666.1:n.96+2440T>C
ENST00000628224.2:c.2338T>C ENSP00000487279.1:p.Phe780Leu
ENST00000633691.1:c.1987T>C ENSP00000487724.1:p.Phe663Leu
ENST00000680606.1:c.2338T>C ENSP00000505612.1:p.Phe780Leu